The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and cause...
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue. This mutation creates an alternative start codon and has been shown in a eukary...
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Full title
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3986707
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3986707
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ISSN
1471-2474
E-ISSN
1471-2474
DOI
10.1186/1471-2474-15-107
